先天性全身脂肪失養症的早期療育介入之臨床實務經驗

A Clinical Experience of a Congenital Generalized Lipodystrophy Child after Early Intervention

先天性全身脂肪失養症是一種罕見的體染色隱性遺傳疾病，其主要特徵為出生後以及嬰兒早期幾乎沒有皮下脂肪組織，又因脂肪堆積於骨骼肌和肝臟，導致全身肌肉肥大及腹部凸出。此外，先天性全身脂肪失養症兒童也會有智能障礙與發展遲緩問題，但較少文獻針對先天性全身脂肪失養症的兒童病患，進行早期療育介入的探討，因此，本研究報告針對一名先天性全身脂肪失養症BSCL2基因變異的兒童病患，透過6個月早期療育的跨專業整合服務，觀察臨床特徵、生理與生化檢查，並評估功能表現狀況，觀察分析早期療育介入的差異。早期療育課程評量的評估結果發現，個案經過6個月早期療育後，在感覺知覺、粗大動作、精細動作、語言溝通及認知方面有明顯進步。建議對於BSCL2基因變異病患的早期療育照護，與發展遲緩兒童照護模式一樣，需跨專業團隊模式整合療育合作，達到有效的早期療育效果。

Congenital generalized lipodystrophy, an uncommon autosomal recessive disease, characterized by the absence of adipose tissue, which is started from birth or early infancy and results in a striking muscular appearance.The children with congenital generalized lipodystrophy also have the problems of mental retardation and developmental delay. But, no literatures which explored the effects of early intervention for the children were published.Therefore,this study explored the clinical characteristics, physiological and biochemical tests, and the changes in functional performance status of 6-months early intervention on a congenital generalized lipodystrophy (BSCL2) child. The improvements of sensory perception, gross motor, fine motor, language communication and cognition were found by the early intervention program evaluation. We suggests that theBSCL2 child,who is like a developmental delay patient, need the early intervention of multi-disciplinary team model to achieve the early treatment effects.